Incidental Mutation 'G4846:Olfr221'
ID524
Institutional Source Beutler Lab
Gene Symbol Olfr221
Ensembl Gene ENSMUSG00000044286
Gene Nameolfactory receptor 221
SynonymsOlfr1514, GA_x6K02T2RJGY-959918-960853, MOR205-1, MOR205-2, GA_x6K02SYYB8M-929-258
Accession Numbers

Genbank: NM_001001808

Is this an essential gene? Probably non essential (E-score: 0.229) question?
Stock #G4846 (G3) of strain Worker
Quality Score
Status Validated
Chromosome14
Chromosomal Location52033962-52042459 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 52035977 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 45 (M45L)
Ref Sequence ENSEMBL: ENSMUSP00000151163 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052560] [ENSMUST00000214071] [ENSMUST00000214342] [ENSMUST00000216188] [ENSMUST00000216907]
Predicted Effect probably benign
Transcript: ENSMUST00000052560
AA Change: M45L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000063109
Gene: ENSMUSG00000044286
AA Change: M45L

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.5e-51 PFAM
Pfam:7tm_1 41 290 3.1e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214071
AA Change: M45L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000214342
AA Change: M45L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000216188
AA Change: M45L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000216907
AA Change: M45L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Meta Mutation Damage Score 0.262 question?
Coding Region Coverage
  • 1x: 77.7%
  • 3x: 53.3%
Het Detection Efficiency29.1%
Validation Efficiency 90% (104/115)
MGI Phenotype FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 11 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A G 12: 71,137,909 I24V probably benign Het
Col4a2 T C 8: 11,408,872 probably benign Homo
Cyp3a13 C T 5: 137,898,823 E410K possibly damaging Het
Gm20518 A T 16: 17,836,645 probably benign Homo
Nbea T A 3: 56,087,497 D166V probably damaging Het
Olfr794 A T 10: 129,571,170 I172F probably damaging Het
Plxna4 T A 6: 32,192,272 D1330V probably damaging Het
Ppl A G 16: 5,087,206 S1742P probably damaging Homo
Samd4 T A 14: 47,016,319 I80N probably damaging Het
Spinkl T A 18: 44,169,106 probably benign Het
Ttll5 T A 12: 86,024,244 I1297N probably damaging Het
Other mutations in Olfr221
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02559:Olfr221 APN 14 52036007 missense probably damaging 1.00
R0077:Olfr221 UTSW 14 52035985 missense possibly damaging 0.94
R4762:Olfr221 UTSW 14 52035464 missense possibly damaging 0.85
R5209:Olfr221 UTSW 14 52035953 missense probably benign
R5257:Olfr221 UTSW 14 52035884 missense possibly damaging 0.93
R6225:Olfr221 UTSW 14 52035368 missense possibly damaging 0.55
R6492:Olfr221 UTSW 14 52035445 missense probably benign 0.01
R7412:Olfr221 UTSW 14 52035853 nonsense probably null
Nature of Mutation
DNA sequencing using the SOLiD technique identified an A to T transversion at position 133 of the Olfr221 transcript. The mutated nucleotide causes a methionine to leucine substitution at amino acid 45 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction

The Olfr221 gene encodes the 311 amino acid olfactory receptor 221. Olfactory receptors are G-protein coupled receptors (GPCRs) and usually contain seven transmembrane domains.

 
 
The M45L change is predicted to be benign by the PolyPhen program.
Posted On2010-11-02